Subacute neuronopathic Gaucher's disease

disorder

SNOMED 5963005CUI C0268251

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Breakdown of bone

Very frequent (80-99%)HP:0002797

Death of bone due to decreased blood supply

Very frequent (80-99%)HP:0010885

Encephalopathy

Very frequent (80-99%)HP:0001298

Enlarged liver

Very frequent (80-99%)HP:0002240

Eye muscle paralysis

Very frequent (80-99%)HP:0000602

Increased susceptibility to fractures

Very frequent (80-99%)HP:0002659

Large spleen

Very frequent (80-99%)HP:0001744

Squint

Very frequent (80-99%)HP:0000486

Tiredness

Very frequent (80-99%)HP:0012378

Ataxia

Frequent (30-79%)HP:0001251

Bone pain

Frequent (30-79%)HP:0002653

Calcification of the aorta

Frequent (30-79%)HP:0004963

Decreased haemoglobin

Frequent (30-79%)HP:0001903

Delayed puberty

Frequent (30-79%)HP:0000823

Delayed skeletal development

Frequent (30-79%)HP:0002750

Elevated immunoglobulin levels

Frequent (30-79%)HP:0010702

Epilepsy

Frequent (30-79%)HP:0001250

Gait disturbance

Frequent (30-79%)HP:0001288

Hydrops fetalis

Frequent (30-79%)HP:0001789

Increased bone mineral density

Frequent (30-79%)HP:0011001

Myoclonic epilepsy, progressive

Frequent (30-79%)HP:0002123

Osteopenia

Frequent (30-79%)HP:0000938

Pancytopenia

Frequent (30-79%)HP:0001876

Progressive dementia

Frequent (30-79%)HP:0000726

Retarded growth

Frequent (30-79%)HP:0001510

Slowed horizontal saccades

Frequent (30-79%)HP:0007885

Thrombocytopenia

Frequent (30-79%)HP:0001873

Abnormal myocardium morphology

Occasional (5-29%)HP:0001637

Aortic valve calcification

Occasional (5-29%)HP:0004380

Blood in urine

Occasional (5-29%)HP:0000790

Related Conditions

Gaucher disease with ophthalmoplegia and cardiovascular calcification(child)

Gaucher's disease(parent)

Inherited metabolic disorder of nervous system(parent)

Quick Facts

SNOMED CT: 5963005
UMLS CUI: C0268251
Fully Specified Name: Subacute neuronopathic Gaucher's disease (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.